Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
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DOI：
10.1007/s10048-009-0204-2
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发表时间：
2010-02-01
期刊：
影响因子：
2.2
通讯作者：
Papi, Laura
中科院分区：
文献类型：
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作者：
Bacci, Costanza;Sestini, Roberta;Papi, Laura
神经鞘瘤病（MIM 162091）是一种易于发生中央和外周神经鞘瘤的疾病;大多数病例是散发性的，没有明确的家族史，但少数家族有明确的常染色体显性遗传模式。SMARCB 1的生殖系突变与神经鞘瘤病相关我们报告一个多发性神经鞘瘤和脑膜瘤的家族。在外显子1中发现SMARCB 1种系突变。突变c.92A > T（p.Glu31Val）发生在SMARCB 1蛋白中高度保守的氨基酸中。此外，计算机模拟分析表明，突变破坏了外显子1的供体共有序列。RNA研究证实了突变等位基因转录的mRNA的情况下。这是第一次报告的SMARCB 1种系突变的家庭与神经鞘瘤病的特点是发展为多发性脑膜瘤。
Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described. Germline mutations in SMARCB1 are associated with schwannomatosis. We report a family with multiple schwannomas and meningiomas. A SMARCB1 germline mutation in exon 1 was identified. The mutation, c.92A > T (p.Glu31Val), occurs in a highly conserved amino acid in the SMARCB1 protein. In addition, in silico analysis demonstrated that the mutation disrupts the donor consensus sequence of exon 1. RNA studies verified the absence of mRNA transcribed by the mutant allele. This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas.